Detail Information

Publications16

A review of interferon use in patients with relapsing remitting multiple sclerosis in the Canterbury region, New Zealand: 2000-2006

Susan ByrneTrinity College, Dublin, IrelandN Z Med J 125:37-44. 2012

..Demographic analysis showed that the age at entry, duration of disease and EDSS at entry were each greater than in the landmark clinical trials. Relapse rates and usage of IVMP decreased when compared to the 2 years prior to treatment...

Absence of consensus in diagnostic criteria for familial neurodegenerative diseases

..These familial cases are usually clinically indistinguishable from sporadic cases. Identifying familial cases is important both in terms of clinical guidance for family members and for gene discovery...

..The population rate of familial amyotrophic lateral sclerosis (FALS) is frequently reported as 10%. However, a systematic review and meta-analysis of the true population based frequency of FALS has never been performed...

..We assessed the frequency of the recently identified C9orf72 repeat expansion in familial and apparently sporadic cases of ALS and characterised the cognitive and clinical phenotype of patients with this expansion...

Analysis of the hexanucleotide repeat expansion and founder haplotype at C9ORF72 in an Irish psychosis case-control sample

..Results to date have been inconclusive. The Irish ALS register has been recently geocoded, presenting opportunity to perform a spatial analysis on national prospectively gathered data of incident cases over an 18-year period...

Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing

..Over 100 genes have been implicated in the aetiology of amyotrophic lateral sclerosis (ALS). A detailed understanding of their independent and cumulative contributions to disease burden may help guide various clinical and research efforts...